# CTNNB1 Neurodevelopmental Syndrome - Natural History Study

> **NCT07167732** · — · RECRUITING · sponsor: **University Medical Centre Ljubljana** · enrollment: 250 (estimated)

## Conditions studied

- CTNNB1 Neurodevelopmental Syndrome

## Interventions

- **DIAGNOSTIC_TEST:** A General Medical and Neurological Assessment
- **DIAGNOSTIC_TEST:** World Health Organisation (WHO) Motor Milestones
- **DIAGNOSTIC_TEST:** Burke-Fahn-Marsden Dystonia Rating Scale
- **DIAGNOSTIC_TEST:** Spastic Paraplegia Rating Scale
- **DIAGNOSTIC_TEST:** 5. CTNNB1-Related Neurodevelopmental Disorder (NEDSDV) Cardiac Health Questionnaire
- **DIAGNOSTIC_TEST:** 10m Walk-Run Test
- **DIAGNOSTIC_TEST:** The Nine Hole Peg Test
- **DIAGNOSTIC_TEST:** The Gross Motor Function Classification System
- **DIAGNOSTIC_TEST:** Bayley Scales of Infant and Toddler Development-4: Fine Motor, Gross Motor, Language, and Cognitive Scales
- **DIAGNOSTIC_TEST:** Wechsler Non-Verbal Scale of Ability
- **DIAGNOSTIC_TEST:** The Vineland Adaptive Behaviour Scales - 3
- **DIAGNOSTIC_TEST:** Aberrant Behaviour Checklist -Community
- **DIAGNOSTIC_TEST:** The Modified Checklist for Autism in Toddlers
- **DIAGNOSTIC_TEST:** The Autism Spectrum Quotient Questionnaire -Children's Version
- **DIAGNOSTIC_TEST:** The Autism-Spectrum Quotient (AQ)-Adolescent Version
- **DIAGNOSTIC_TEST:** Continuous Movement Monitoring (Actimyo/Syde)
- **DIAGNOSTIC_TEST:** Sleep Disturbance Scale for Children
- **DIAGNOSTIC_TEST:** Seizure Diary
- **DIAGNOSTIC_TEST:** 30min EEG Recording
- **DIAGNOSTIC_TEST:** PedsQL Family Impact Module

## Key facts

- **NCT ID:** NCT07167732
- **Lead sponsor:** University Medical Centre Ljubljana
- **Sponsor class:** OTHER
- **Phase:** —
- **Study type:** OBSERVATIONAL
- **Status:** RECRUITING
- **Start date:** 2024-06-14
- **Primary completion:** 2029-06
- **Final completion:** 2030-01
- **Target enrollment:** 250 (ESTIMATED)
- **Last updated:** 2025-09-22

## Collaborators

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## Primary source

ClinicalTrials.gov registry: https://clinicaltrials.gov/study/NCT07167732

## Citation

> US National Library of Medicine, ClinicalTrials.gov registration NCT07167732, "CTNNB1 Neurodevelopmental Syndrome - Natural History Study". Retrieved via AI Analytics 2026-06-02 from https://api.ai-analytics.org/clinical/NCT07167732. Licensed CC0.

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